AutismKB 2.0

Evidence Details for NUAK1


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Basic Information Top
Gene Symbol:NUAK1 ( ARK5,KIAA0537 )
Gene Full Name: NUAK family, SNF1-like kinase, 1
Band: 12q23.3
Quick LinksEntrez ID:9891; OMIM: 608130; Uniprot ID:NUAK1_HUMAN; ENSEMBL ID: ENSG00000074590; HGNC ID: 14311
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NUAK1|9891|nucleotide
ATGGAAGGGGCCGCCGCGCCTGTGGCGGGGGACCGCCCCGACTTGGGGCTGGGGGCGCCGGGCTCTCCCCGAGAGGCGGTGGCGGGGGCGACTGCAGCCCTGGAG
CCCAGGAAGCCGCACGGGGTGAAGCGGCATCACCACAAGCACAACTTGAAGCACCGCTACGAGCTGCAGGAGACCCTGGGCAAAGGCACCTACGGCAAAGTCAAG
CGGGCCACCGAGAGGTTTTCTGGCCGAGTGGTTGCTATAAAATCCATTCGTAAGGACAAAATTAAGGATGAACAAGACATGGTTCACATCAGACGAGAGATTGAG
ATCATGTCATCTCTCAACCATCCTCATATCATCAGTATTTATGAAGTGTTTGAGAACAAAGATAAGATTGTGATCATCATGGAATATGCCAGCAAAGGGGAGCTG
TACGATTACATCAGTGAGCGGCGACGCCTCAGTGAGAGGGAGACCCGGCACTTCTTCCGGCAGATCGTCTCTGCTGTGCACTATTGTCACAAGAACGGTGTGGTC
CACCGGGACTTGAAGCTGGAAAATATACTGCTCGATGACAACTGCAATATTAAGATTGCTGACTTTGGGCTTTCCAACCTGTACCAGAAGGATAAGTTCTTACAA
ACGTTTTGTGGGAGTCCACTCTATGCATCTCCTGAGATTGTCAATGGGAGACCTTACCGAGGGCCAGAGGTGGACAGCTGGGCCCTGGGTGTGTTGCTTTACACT
CTTGTTTATGGAACAATGCCCTTCGATGGTTTCGATCACAAAAACCTCATTCGGCAAATCAGCAGCGGAGAGTACCGGGAGCCAACACAGCCCTCAGATGCTCGA
GGACTCATACGGTGGATGCTGATGGTGAACCCCGATCGCCGGGCCACTATTGAGGACATTGCCAACCACTGGTGGGTGAACTGGGGCTATAAGAGCAGCGTGTGT
GACTGTGATGCCCTCCATGACTCTGAGTCCCCACTCCTGGCTCGGATCATTGACTGGCACCACCGTTCCACAGGGCTGCAGGCTGACACCGAAGCCAAAATGAAG
GGCCTGGCCAAACCCACGACCTCTGAGGTCATGCTAGAGCGGCAGCGGTCGCTGAAGAAATCCAAGAAAGAGAATGACTTTGCTCAGTCTGGTCAGGATGCAGTG
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>NUAK1|9891|protein
MEGAAAPVAGDRPDLGLGAPGSPREAVAGATAALEPRKPHGVKRHHHKHNLKHRYELQETLGKGTYGKVKRATERFSGRVVAIKSIRKDKIKDEQDMVHIRREIE
IMSSLNHPHIISIYEVFENKDKIVIIMEYASKGELYDYISERRRLSERETRHFFRQIVSAVHYCHKNGVVHRDLKLENILLDDNCNIKIADFGLSNLYQKDKFLQ
TFCGSPLYASPEIVNGRPYRGPEVDSWALGVLLYTLVYGTMPFDGFDHKNLIRQISSGEYREPTQPSDARGLIRWMLMVNPDRRATIEDIANHWWVNWGYKSSVC
DCDALHDSESPLLARIIDWHHRSTGLQADTEAKMKGLAKPTTSEVMLERQRSLKKSKKENDFAQSGQDAVPESPSKLSSKRPKGILKKRSNSEHRSHSTGFIEGV
VGPALPSTFKMEQDLCRTGVLLPSSPEAEVPGKLSPKQSATMPKKGILKKTQQRESGYYSSPERSESSELLDSNDVMGSSIPSPSPPDPARVTSHSLSCRRKGIL
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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (1) 1 (1) 0 (0) 0 (0) 1 (2) 0 (0) 0 (0) 0 (0) 12 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top